18 relations: Asprosin, Ectopia lentis, EGF-like domain, Exon, Fibrillin, Furin, Gene, Glycoprotein, Latent TGF-beta binding protein, Marfan syndrome, Marfanoid–progeroid–lipodystrophy syndrome, MASS syndrome, Microfibril, Proline, Protein, Protein precursor, Shprintzen–Goldberg syndrome, Weill–Marchesani syndrome.
Asprosin is a protein hormone produced by mammals in their fatty (white adipose) tissues that stimulates the liver to release glucose into the blood stream.
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.
The EGF-like domain is an evolutionary conserved protein domain, which derives its name from the epidermal growth factor where it was first described.
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.
Furin is a protein that in humans is encoded by the FURIN gene.
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to amino acid side-chains.
The latent TGF-beta binding proteins (LTBP) are a family of carrier proteins.
Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.
MASS syndrome is a medical disorder of the connective tissue similar to Marfan syndrome.
A microfibril is a very fine fibril, or fiber-like strand, consisting of glycoproteins and cellulose.
Proline (symbol Pro or P) is a proteinogenic amino acid that is used in the biosynthesis of proteins.
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
A protein precursor, also called a pro-protein or pro-peptide, is an inactive protein (or peptide) that can be turned into an active form by post-translational modification, such as breaking off a piece of the molecule or adding on another molecule.
Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features.
Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities.